Disease: Poor head control
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
CACNA1G O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 1.00 0.590 0.577
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CYFIP2 Q96F07 cytoplasmic FMR1 interacting protein 2 Enzyme modulator 1.00 0.633 0.731
DHDDS Q86SQ9 dehydrodolichyl diphosphate synthase subunit Enzyme 0.25 0.468 0.885
ELP2 Q6IA86 elongator acetyltransferase complex subunit 2 4.2E-20 0.716 0.538
EXOSC3 Q9NQT5 exosome component 3 Enzyme 2.4E-04 0.610 0.692
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
GM2A P17900 GM2 ganglioside activator Transporter 3.1E-02 0.678 0.692
GPHN Q9NQX3 gephyrin 1.00 0.608 0.538
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692
NDUFS2 O75306 NADH:ubiquinone oxidoreductase core subunit S2 Enzyme 1.4E-03 0.601 0.654
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
NEUROD2 Q15784 neuronal differentiation 2 Enzyme 0.94 0.619 0.538
NPHP3-ACAD11 NPHP3-ACAD11 readthrough (NMD candidate) 0.663 0.577
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
PCLO Q9Y6V0 piccolo presynaptic cytomatrix protein 1.00 0.656 0.577
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PIGP P57054 phosphatidylinositol glycan anchor biosynthesis class P 1.9E-03 0.633 0.462
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
PNPT1 Q8TCS8 polyribonucleotide nucleotidyltransferase 1 Enzyme 4.0E-04 0.653 0.462